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HLBS PHGKB

Specific PHGKB|HLBS|PHGKB

Last Posted: Dec 01, 2021
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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
JR Chora et al, Genetics in Medicine, NOvember 30, 2021

The Clinical Genome Resource Familial Hypercholesterolemia (FH) Variant Curation Expert Panel was tasked with optimizing the existing ACMG/AMP framework for disease-specific classification in FH. In this study, we provide consensus recommendations for the most common FH-associated gene, LDLR, where >2300 unique FH-associated variants have been identified.

Gene therapy for hemophilia A
K O'Leary, Nature Medicine, November 30, 2021

Hemophilia A is caused by gene mutations that lead to absence or dysfunction of clotting factor VIII, which manifests as frequent, spontaneous hemorrhage. In a phase 1/2 trial, an investigational gene therapy brought about sustained expression of clotting factor VII and a dramatic reduction in the bleeding rate.

Clinical utility of polygenic risk scores for coronary artery disease.
Klarin Derek et al. Nature reviews. Cardiology 2021 11

In this Review, we describe technical and downstream considerations for the derivation and validation of polygenic risk scores and current evidence for their efficacy and safety. We discuss the implementation of these scores in clinical medicine for uses including risk prediction and screening algorithms for coronary artery disease, prioritization of patient subgroups that are likely to derive benefit from treatment, and efficient prospective clinical trial designs.

A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial
LM van den Heuvel et al, EJHG, November 24, 2021

If undetected, inherited cardiac conditions can lead to sudden cardiac death, while treatment options are available. Predictive DNA testing is therefore advised for at-risk relatives, and probands are currently asked to inform relatives about this. However, fewer than half of relatives attend genetic counselling. In this trial, we compared a tailored approach to informing relatives, in which probands were asked whether they preferred relatives to be informed by themselves or by the genetic counsellor, with current practice.


news Latest News and Publications
Ancestry may confound genetic machine learning: Candidate-gene prediction of opioid use disorder as an example. External Web Site Icon
Hatoum Alexander S et al. Drug and alcohol dependence 2021 229(Pt B) 109115
Contribution of Family History of Head and Neck Cancer and Associated Risk Factors: Analysis of an Internet Based Risk Assessment Tool. External Web Site Icon
O'Keefe R et al. International journal of radiation oncology, biology, physics 2021 111(3S) e376
Controlling my genome with my smartphone: first clinical experiences of the PROMISE system. External Web Site Icon
Amr Ali et al. Clinical research in cardiology : official journal of the German Cardiac Society 2021
Derivation and Validation of Genome-Wide Polygenic Score for Ischemic Heart Failure. External Web Site Icon
Paranjpe Ishan et al. Journal of the American Heart Association 2021 e021916
Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea. External Web Site Icon
Allard Pierre et al. Haematologica 2021
Hemophilia Gene Therapy Value Assessment: Methodological Challenges and Recommendations. External Web Site Icon
Garrison Louis P et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2021 24(11) 1628-1633
Potential evidence for epigenetic biomarkers of metabolic syndrome in human whole blood in Latinos. External Web Site Icon
Urashima Keane et al. PloS one 2021 16(10) e0259449
Profile of Medicaid enrollees with sickle cell disease: A high need, high cost population. External Web Site Icon
Grady April et al. PloS one 2021 16(10) e0257796
Recent Advances on the Genetics of Spontaneous Coronary Artery Dissection. External Web Site Icon
Amrani-Midoun Asma et al. Circulation. Genomic and precision medicine 2021 CIRCGEN121003393
Toward a Conversational Agent to Support the Self-Management of Adults and Young Adults With Sickle Cell Disease: Usability and Usefulness Study. External Web Site Icon
Issom David-Zacharie et al. Frontiers in digital health 2021 3600333

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About HLBS-PopOmics

HLBS-PopOmics is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic and other precision health discoveries into improved health care and prevention related to Heart and Vascular Diseases(H), Lung Diseases(L), Blood Diseases(B), and Sleep Disorders(S)...more


Site Citation:
Mensah GA, Yu W, Barfield WL, Clyne M, Engelgau MM, Khoury MJ. HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders. Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0118-1

Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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